Korean J Hematol.  2005 Jun;40(2):129-133. 10.5045/kjh.2005.40.2.129.

Aggressive Systemic Mastocytosis Following Ovarian Germ Cell Tumor

• Huh EJ
• Park SY
• Choi SR
• Chung SY
• Kang JH
• Kim KM
• Lee JH
• Jeong DC

• KMID: 2252350
• DOI: http://doi.org/10.5045/kjh.2005.40.2.129

Abstract

A 4 years-old girl was diagnosed with aggressive systemic mastocytosis at 2 months after the end of chemotherapy including cisplatin, bleomycin and etoposide for an ovarian germ cell tumor (GCT). She was shown pigmented skin lesion, hepatosplenomegaly, thrombocytopenia and increased mast cells with positive toluidine blue staining on the bone marrow examination. Immunohistochemical staining for c-kit was highly expressed in the bone marrow and skin, but not in the GCT specimen. However, c-kit point mutation was detected in the bone marrow, peripheral blood and GCT tissue when performing PCR via oligonucleotide sequencing. We report here on one case of aggressive systemic mastocytosis following ovarian germ cell tumor with c-kit point mutation.

Keyword

Germ cell tumor; Aggressive systemic mastocytosis; c-kit point mutation

MeSH Terms

Bleomycin
Bone Marrow
Bone Marrow Examination
Child, Preschool
Cisplatin
Drug Therapy
Etoposide
Female
Germ Cells*
Humans
Mast Cells
Mastocytosis, Systemic*
Neoplasms, Germ Cell and Embryonal*
Point Mutation
Polymerase Chain Reaction
Skin
Thrombocytopenia
Tolonium Chloride
Bleomycin
Cisplatin
Etoposide
Tolonium Chloride

Figure

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  Fig. 1. Germ cell tumor of the ovary. There was shown immature teratoma within the mixed germ cell tumor of the ovary with primitive neuroepithelial components (HE stain, × 100).

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  Fig. 2. Widespread brown maculopapular skin lesion on the abdomen with visible oophorectomy scar.

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  Fig. 3. There were shown a cluster of large atypical mast cells with metachromatic granules in Toluidine blue staining (× 1,000, A), and strong positive findings of c-kit by immunohistochemical staining in bone marrow (× 100, B).

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